Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type(#)

Methylmalonic aciduria and homocystinuria, cblC type, is the most common disorder of intracellular vitamin B12 (cobalamin, cbl) metabolism, which results in impaired biosynthesis of methylcobalamin and adenosylcobalamin. The gene MMACHC responsible for the cblC type had been identified, which enable...

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Dettagli Bibliografici
Pubblicato in:Int J Clin Exp Pathol
Autori principali: Wang, Jun, Li, Erzhen, Wang, Liwen, Wang, Zhilong, Yang, Shenghai, Zhou, Qiao, Chen, Qian
Natura: Artigo
Lingua:Inglês
Pubblicazione: e-Century Publishing Corporation 2015
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4583918/
https://ncbi.nlm.nih.gov/pubmed/26464686
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